Title |
Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course
|
---|---|
Published in |
Pediatric Rheumatology, November 2016
|
DOI | 10.1186/s12969-016-0124-2 |
Pubmed ID | |
Authors |
Tilmann Kallinich, Anne Thorwarth, Sae-Lim von Stuckrad, Angela Rösen-Wolff, Hella Luksch, Patrick Hundsdoerfer, Kirsten Minden, Peter Krawitz |
Abstract |
The pathophysiological origin of juvenile idiopathic arthritis (JIA) is largely unknown. However, individuals with presumably pathogenic mutations in FAMIN have been reported, associating this gene with a rare subtype of this disorder. FAMIN, that is formerly also referred to as LACC1 or C13orf31, has recently been shown to play a crucial role in immune-metabolic functions and is involved in regulation of inflammasome activation and promotion of ROS production. We describe two siblings with severe familial forms of juvenile arthritis in which whole-exome-sequencing revealed a novel homozygous frameshift mutation (NM_153218.2:c.827delC¸. p.(T276fs*2) in FAMIN. The observation of a new deleterious mutation adds further evidence that pathogenic mutations in FAMIN are causal for a monogenic form of JIA. Furthermore the associated phenotype is not restricted to systemic JIA, but can also be found in other forms of familial juvenile arthritis. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Switzerland | 2 | 67% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Canada | 1 | 3% |
Unknown | 30 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 6 | 19% |
Student > Ph. D. Student | 5 | 16% |
Student > Master | 4 | 13% |
Student > Bachelor | 3 | 10% |
Other | 2 | 6% |
Other | 5 | 16% |
Unknown | 6 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 8 | 26% |
Medicine and Dentistry | 8 | 26% |
Agricultural and Biological Sciences | 2 | 6% |
Chemistry | 2 | 6% |
Immunology and Microbiology | 2 | 6% |
Other | 3 | 10% |
Unknown | 6 | 19% |